PWWP2B

Chr 10

PWWP domain containing 2B

Also known as: PWWP2, bA432J24.1, pp8607

NCBI Gene: 170394 ENSG00000171813 UniProt: Q6NUJ5

PWWP2B encodes a chromatin-binding protein that acts as an adapter between nucleosome components and chromatin-modifying complexes, regulating histone acetylation levels at actively transcribed genes by forming NuRD subcomplexes and recruiting HDACs to gene promoters. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay. The gene follows autosomal dominant inheritance and is highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

Enables NuRD complex binding activity. Predicted to be involved in chromatin remodeling; positive regulation of transcription elongation by RNA polymerase II; and regulation of cold-induced thermogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.49

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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